title: Hyperinsulinism and hyperammonaemia syndrome due to a novel missense mutation in the allosteric domain of the glutamate dehydrogenase 1 gene.
abstract: Congenital hyperinsulinism is one of the causes of persistent hypoglycaemia in neonates and infants. We describe a one-month-old boy with a rare form of congenital hyperinsulinism characterised by hypoglycaemia and hyperammonaemia.
authors.affiliation: Department of Paediatrics and Adolescent Medicine, United Christian Hospital, Hong Kong, China. chikkk@ha.org.hk
authors.forename: Kar-Ki
authors.initials: KK
authors.lastname: Chik
authors.forename: Chun-Wing
authors.initials: CW
authors.lastname: Chan
authors.forename: Ching-Wan
authors.initials: CW
authors.lastname: Lam
authors.forename: Kwok-Leung
authors.initials: KL
authors.lastname: Ng
mesh_terms: D000495:Allosteric Site / Q000235:genetics*; D005969:Glutamate Dehydrogenase / Q000235:genetics*; D006723:Hong Kong; D006801:Humans; D022124:Hyperammonemia / Q000209:etiology* / Q000235:genetics*; D006943:Hyperglycemia / Q000235:genetics; D006946:Hyperinsulinism / Q000209:etiology* / Q000235:genetics*; D007223:Infant; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*
chemical_list: D005969:Glutamate Dehydrogenase